ACVR1 Cell Lysate – Tissue Lysate

Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008]

ALK2: On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for activin. May be involved for left-right pattern formation during embryogenesis. Interacts with FKBP1A. Interacts with FCHO1. Expressed in normal parenchymal cells, endothelial cells, fibroblasts and tumor-derived epithelial cells. Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.

Protein type: Membrane protein, integral; Kinase, protein; EC 2.7.11.30; Protein kinase, Ser/Thr (receptor); Protein kinase, TKL; TKL group; STKR family; Type1 subfamily

Chromosomal Location of Human Ortholog: 2q23-q24

Cellular Component: apical part of cell; integral to plasma membrane; activin receptor complex

Molecular Function: protein homodimerization activity; metal ion binding; peptide hormone binding; transmembrane receptor protein serine/threonine kinase activity; protein kinase activity; protein serine/threonine kinase activity; protein binding; activin receptor activity, type I; transforming growth factor beta receptor activity, type I; transforming growth factor beta binding; activin binding; SMAD binding; ATP binding; receptor signaling protein serine/threonine kinase activity

Biological Process: pharyngeal system development; in utero embryonic development; positive regulation of transcription, DNA-dependent; peptidyl-threonine phosphorylation; activin receptor signaling pathway; gastrulation with mouth forming second; positive regulation of bone mineralization; protein amino acid phosphorylation; germ cell development; negative regulation of signal transduction; BMP signaling pathway; patterning of blood vessels; positive regulation of osteoblast differentiation; negative regulation of activin receptor signaling pathway; mesoderm formation; transforming growth factor beta receptor signaling pathway; positive regulation of transcription from RNA polymerase II promoter; smooth muscle cell differentiation; regulation of skeletal muscle development; determination of left/right symmetry; regulation of ossification; neural crest cell migration; acute inflammatory response; urogenital system development; G1/S transition of mitotic cell cycle

Disease: Fibrodysplasia Ossificans Progressiva